Analysis of chromosome abnormalities in sperm and embryos from two 45,XY,t(13;14)(q10;q10) carriers

Robertsonian translocation t(13q14q) is studied in sperm and embryos of two couples undergoing preimplantation genetic diagnosis (PGD) in which both m ales are carriers of the translocation. It is already known that the chance s of achieving pregnancy for a translocation carrier are directly linked to the number of normal or balanced embryos available for replacement. In our work it was found that the frequency of balanced spermatozoa was almost id entical in both patients (74 and 77%), and after PGD, the frequencies of ab normal embryos caused by the translocation were also similar. Sperm chromos ome analysis in translocation carriers can provide a reasonable basis for e stimating a baseline of chromosome abnormalities to be found in embryos dur ing an assisted reproductive cycle. However, individual factors not linked to the translocation can also produce other chromosome abnormalities (mosai cism, haploidy, polyploidy) and may compromise the chances of achieving a v iable pregnancy. Copyright (C) 2000 John Wiley & Sons, Ltd.